Canonical Allele Identifier: CA609929350

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs768550630
• gnomAD v2: 13-48611933-A-AGTCGTG
• gnomAD v3: 13-48037797-A-AGTCGTG
• gnomAD v4: 13-48037797-A-AGTCGTG
• MyVariant Identifiers: chr13:g.48611939_48611940insGTCGTG (hg19) ; chr13:g.48611933_48611934insGTCGTG (hg19) ; chr13:g.48037797_48037798insGTCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037800_48037805dup , CM000675.2:g.48037800_48037805dup	GRCh38
NC_000013.10:g.48611936_48611941dup , CM000675.1:g.48611936_48611941dup	GRCh37
NC_000013.9:g.47509937_47509942dup	NCBI36
NG_047021.1:g.5234_5239dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258662.3:c.54_59dup (NUDT15) MANE Select	ENSP00000258662.1:p.Val20_Thr21insValVal
ENST00000643246.1:c.-360_-355dup (SUCLA2)	ENSP00000496235.1:n.-360_-355dup
ENST00000646804.1:c.-282_-277dup (SUCLA2)	ENSP00000493977.1:n.-282_-277dup
ENST00000258662.2:c.54_59dup (NUDT15)	ENSP00000258662.1:p.Val20_Thr21insValVal
NM_001304745.1:c.54_59dup (NUDT15)	NP_001291674.1:p.Val20_Thr21insValVal
NM_018283.2:c.54_59dup (NUDT15)	NP_060753.1:p.Val20_Thr21insValVal
NM_018283.3:c.54_59dup (NUDT15)	NP_060753.1:p.Val20_Thr21insValVal
NR_136687.1:n.234_239dup (NUDT15)
NR_136688.1:n.234_239dup (NUDT15)
NM_018283.4:c.54_59dup (NUDT15) MANE Select	NP_060753.1:p.Val20_Thr21insValVal
NM_001304745.2:c.54_59dup (NUDT15)	NP_001291674.1:p.Val20_Thr21insValVal
NR_136687.2:n.75_80dup (NUDT15)
NR_136688.2:n.75_80dup (NUDT15)